Reis A - Search Results

1

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K. Varon R, et al. Among authors: reis a. Cancer Res. 2001 May 1;61(9):3570-2. Cancer Res. 2001. PMID: 11325820

2

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

Reis A, Küster W, Eckardt R, Sperling K. Reis A, et al. Hum Genet. 1992 Sep-Oct;90(1-2):113-6. doi: 10.1007/BF00210752. Hum Genet. 1992. PMID: 1385292

3

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K, et al. Reis A, et al. Nat Genet. 1994 Feb;6(2):174-9. doi: 10.1038/ng0294-174. Nat Genet. 1994. PMID: 7512862

4

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.

Varon R, Magdorf K, Staab D, Wahn HU, Krawczak M, Sperling K, Reis A. Varon R, et al. Among authors: reis a. Hum Mol Genet. 1995 Aug;4(8):1463-4. doi: 10.1093/hmg/4.8.1463. Hum Mol Genet. 1995. PMID: 7581390 No abstract available.

5

Environmental trichlorfon and cluster of congenital abnormalities.

Czeizel AE, Elek C, Gundy S, Métneki J, Nemes E, Reis A, Sperling K, Tímár L, Tusnády G, Virágh Z. Czeizel AE, et al. Among authors: reis a. Lancet. 1993 Feb 27;341(8844):539-42. doi: 10.1016/0140-6736(93)90293-p. Lancet. 1993. PMID: 8094783

6

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.

Bürger J, Kunze J, Sperling K, Reis A. Bürger J, et al. Among authors: reis a. Am J Med Genet. 1996 Dec 11;66(2):221-6. doi: 10.1002/(SICI)1096-8628(19961211)66:2<221::AID-AJMG19>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8958335

7

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K. Saar K, et al. Among authors: reis a. Am J Hum Genet. 1997 Mar;60(3):605-10. Am J Hum Genet. 1997. PMID: 9042920 Free PMC article.

8

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.

Macek M Jr, Macek M Sr, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR. Macek M Jr, et al. Among authors: reis a. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

9

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

Bürger J, Buiting K, Dittrich B, Gross S, Lich C, Sperling K, Horsthemke B, Reis A. Bürger J, et al. Among authors: reis a. Am J Hum Genet. 1997 Jul;61(1):88-93. doi: 10.1086/513900. Am J Hum Genet. 1997. PMID: 9245988 Free PMC article.

10

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Varon R, et al. Among authors: reis a. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.

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